Canonical Allele Identifier: CA367241732

Gene: CHN2

Linked Data

• MyVariant Identifiers: chr7:g.29438065A>C (hg19) ; chr7:g.29398449A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398449A>C , CM000669.2:g.29398449A>C	GRCh38
NC_000007.13:g.29438065A>C , CM000669.1:g.29438065A>C	GRCh37
NC_000007.12:g.29404590A>C	NCBI36
NG_029365.2:g.256903A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.292A>C	ENSP00000386968.2:p.Ser98Arg
ENST00000439384.6:n.515A>C
ENST00000446446.6:c.253A>C	ENSP00000396867.2:p.Ser85Arg
ENST00000706158.1:c.*197A>C	ENSP00000516236.1:n.*197A>C
ENST00000706159.1:c.165A>C	ENSP00000516237.1:p.Lys55Asn
ENST00000706160.1:c.253A>C	ENSP00000516238.1:p.Ser85Arg
ENST00000706161.1:c.331A>C	ENSP00000516239.1:p.Ser111Arg
ENST00000706162.1:c.253A>C	ENSP00000516240.1:p.Ser85Arg
ENST00000706163.1:c.50-81830A>C	ENSP00000516241.1:n.50-81830A>C
ENST00000222792.11:c.253A>C MANE Select	ENSP00000222792.7:p.Ser85Arg
ENST00000644824.1:c.478A>C	ENSP00000495614.1:p.Ser160Arg
ENST00000222792.10:c.253A>C	ENSP00000222792.6:p.Ser85Arg
ENST00000409350.5:c.292A>C	ENSP00000386968.1:p.Ser98Arg
ENST00000409922.5:n.464A>C
ENST00000409964.6:n.452A>C
ENST00000412536.5:n.273A>C
ENST00000435288.6:c.168+4747A>C	ENSP00000400282.3:n.168+4747A>C
ENST00000439384.5:c.478A>C	ENSP00000409843.1:p.Ser160Arg
ENST00000474070.5:c.353A>C
ENST00000478128.6:n.347A>C
ENST00000482820.6:n.462A>C
ENST00000491856.1:n.1802A>C
ENST00000495789.6:c.253A>C	ENSP00000438587.2:p.Ser85Arg
ENST00000539389.5:c.253A>C	ENSP00000440526.2:p.Ser85Arg
ENST00000539406.5:c.253A>C	ENSP00000444063.2:p.Ser85Arg
NM_001293069.1:c.478A>C	NP_001279998.1:p.Ser160Arg
NM_001293070.1:c.292A>C	NP_001279999.1:p.Ser98Arg
NM_001293071.1:c.148A>C	NP_001280000.1:p.Ser50Arg
NM_001293072.1:c.208A>C	NP_001280001.1:p.Ser70Arg
NM_004067.3:c.253A>C	NP_004058.1:p.Ser85Arg
XM_011515105.1:c.556A>C	XP_011513407.1:p.Ser186Arg
XM_011515106.1:c.517A>C	XP_011513408.1:p.Ser173Arg
XM_011515107.1:c.331A>C	XP_011513409.1:p.Ser111Arg
XM_011515108.1:c.253A>C	XP_011513410.1:p.Ser85Arg
XM_011515109.1:c.214A>C	XP_011513411.1:p.Ser72Arg
XM_011515110.1:c.175A>C	XP_011513412.1:p.Ser59Arg
XM_011515111.1:c.148A>C	XP_011513413.1:p.Ser50Arg
XM_011515112.1:c.556A>C	XP_011513414.1:p.Ser186Arg
XM_011515105.2:c.556A>C	XP_011513407.1:p.Ser186Arg
XM_011515106.2:c.517A>C	XP_011513408.1:p.Ser173Arg
XM_011515107.2:c.331A>C	XP_011513409.1:p.Ser111Arg
XM_017011721.1:c.574A>C	XP_016867210.1:p.Ser192Arg
XM_017011722.1:c.349A>C	XP_016867211.1:p.Ser117Arg
NM_004067.4:c.253A>C MANE Select	NP_004058.1:p.Ser85Arg
NM_001293070.2:c.292A>C	NP_001279999.1:p.Ser98Arg
NM_001293071.2:c.148A>C	NP_001280000.1:p.Ser50Arg
NM_001293072.2:c.208A>C	NP_001280001.1:p.Ser70Arg
NM_001398427.1:c.-186A>C	NP_001385356.1:n.-186A>C